Expanding the novel neurocardiofacio(uro)digital MAPKAPK5?related developmental disorder?s genotype-phenotype correlation: patient report and 19-month follow-up.
收藏NIAID Data Ecosystem2026-03-13 收录
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资源简介：
Expanding the MAPKAPK5 genotype-phenotype correlation whose impairment in human development has been recently described as leading to a severe developmental disorder mainly characterized by neurological, cardiac, and facial anomalies combined with fingers and toe anomalies.
创建时间：
2022-01-30
